A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6802789



Internal ID9858348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76483548..76981672hg38UCSC Ensembl
Outerchr7:76112865..76610989hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38498125
hg19498125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734687
Supporting Variants
SamplesSSM073
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6802789
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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